Osteogenesis Imperfecta Flashcards
1
Q
what is it?
A
a rare group of genetic disorders which mainly affect the bone
most are secondary to mutations of type 1 collagen genes
most are autosomal dominant inheritance
2
Q
how does it present?
A
there are 8 different types with different severity e.g.
- type 1 - mild
- type 2 - neonatal (lethal)
- type 3 and 4 - very severe
can be associated with blue sclerae and dentinogenesis imperfecta
fractures in childhood if more severe
adulthood if mils
3
Q
how is it managed?
A
no cure fracture fixation surgery to correct deformities bisphosphates important differential diagnosis in NAI
